Article
The Arg353Gln polymorphism reduces the level of coagulation factor VII. In vivo and in vitro studies.
Arteriosclerosis, thrombosis, and vascular biology - 1 Nov 1997
Hunault M, Arbini A A, Lopaciuk S, Carew J A, Bauer K A
Abstract excerpt
Factor VII levels are regulated by environmental and genetic factors. Two polymorphisms, a G-to-A transversion at nucleotide 10,976 resulting in Arg353Gln and a decanucleotide insert at position -323 in the 5'-flanking region of the factor VII gene, have been associated with a 20% to 25% reductio...
Topics
- Animals
- CHO Cells
- COS Cells
- Cells, Cultured
- Codon
- Cricetinae
- Cricetulus
- DNA Mutational Analysis
- DNA, Complementary
- Factor VII
- Factor VII Deficiency
- Factor VIIa
- Genotype
- Humans
- Mutagenesis, Insertional
- Point Mutation
- Poland
- Polymorphism, Genetic